Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KLHL40 Gene

Aliases for KLHL40 Gene

  • Kelch Like Family Member 40 2 3 5
  • Sarcosynapsin 2 3 4
  • Kelch Repeat And BTB Domain-Containing Protein 5 3 4
  • Kelch Repeat And BTB (POZ) Domain Containing 5 2 3
  • Nemaline Myopathy Type 8 2 3
  • KBTBD5 3 4
  • SRYP 3 4
  • Kelch-Like Family Member 40 3
  • Kelch-Like 40 (Drosophila) 2
  • NEM8 3
  • SYRP 3

External Ids for KLHL40 Gene

Previous HGNC Symbols for KLHL40 Gene

  • KBTBD5

Summaries for KLHL40 Gene

Entrez Gene Summary for KLHL40 Gene

  • This gene encodes a protein containing a BACK domain, a BTB/POZ domain, and 5 Kelch repeats, however, its exact function is not known. The gene and the multi-domain protein structure are conserved across different taxa, including primates, rodents, chicken and zebrafish. [provided by RefSeq, Dec 2012]

GeneCards Summary for KLHL40 Gene

KLHL40 (Kelch Like Family Member 40) is a Protein Coding gene. Diseases associated with KLHL40 include nemaline myopathy 8, autosomal recessive and klhl40-related nemaline myopathy. An important paralog of this gene is KBTBD8.

UniProtKB/Swiss-Prot for KLHL40 Gene

  • Required for skeletal muscle development.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLHL40 Gene

Genomics for KLHL40 Gene

Genomic Location for KLHL40 Gene

Chromosome:
3
Start:
42,685,519 bp from pter
End:
42,692,544 bp from pter
Size:
7,026 bases
Orientation:
Plus strand

Genomic View for KLHL40 Gene

Genes around KLHL40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLHL40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLHL40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLHL40 Gene

No data available for Regulatory Elements for KLHL40 Gene

Proteins for KLHL40 Gene

  • Protein details for KLHL40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2TBA0-KLH40_HUMAN
    Recommended name:
    Kelch-like protein 40
    Protein Accession:
    Q2TBA0
    Secondary Accessions:
    • Q86SI1
    • Q96MR2

    Protein attributes for KLHL40 Gene

    Size:
    621 amino acids
    Molecular mass:
    69257 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for KLHL40 Gene

    Alternative splice isoforms for KLHL40 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLHL40 Gene

Proteomics data for KLHL40 Gene at MOPED

Post-translational modifications for KLHL40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KLHL40 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KLHL40 Gene

Domains & Families for KLHL40 Gene

Gene Families for KLHL40 Gene

Suggested Antigen Peptide Sequences for KLHL40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q2TBA0

UniProtKB/Swiss-Prot:

KLH40_HUMAN :
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 5 Kelch repeats.
Domain:
  • Contains 1 BACK (BTB/Kelch associated) domain.
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 5 Kelch repeats.
genes like me logo Genes that share domains with KLHL40: view

Function for KLHL40 Gene

Molecular function for KLHL40 Gene

UniProtKB/Swiss-Prot Function:
Required for skeletal muscle development.

Gene Ontology (GO) - Molecular Function for KLHL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with KLHL40: view

Phenotypes for KLHL40 Gene

GenomeRNAi human phenotypes for KLHL40:
genes like me logo Genes that share phenotypes with KLHL40: view

Human Phenotype Ontology for KLHL40 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KLHL40 Gene

Localization for KLHL40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLHL40 Gene

Cytoplasm, myofibril, sarcomere, A band.

Gene Ontology (GO) - Cellular Components for KLHL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031674 I band IBA --
genes like me logo Genes that share ontologies with KLHL40: view

No data available for Subcellular locations from COMPARTMENTS for KLHL40 Gene

Pathways & Interactions for KLHL40 Gene

SuperPathways for KLHL40 Gene

No Data Available

Interacting Proteins for KLHL40 Gene

Gene Ontology (GO) - Biological Process for KLHL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with KLHL40: view

No data available for Pathways by source and SIGNOR curated interactions for KLHL40 Gene

Drugs & Compounds for KLHL40 Gene

No Compound Related Data Available

Transcripts for KLHL40 Gene

mRNA/cDNA for KLHL40 Gene

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLHL40 Gene

Kelch-like family member 40:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KLHL40 Gene

No ASD Table

Relevant External Links for KLHL40 Gene

GeneLoc Exon Structure for
KLHL40
ECgene alternative splicing isoforms for
KLHL40

Expression for KLHL40 Gene

mRNA expression in normal human tissues for KLHL40 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLHL40 Gene

This gene is overexpressed in Muscle - Skeletal (x50.6).

Protein differential expression in normal tissues from HIPED for KLHL40 Gene

This gene is overexpressed in Esophagus (54.2) and Neutrophil (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KLHL40 Gene



SOURCE GeneReport for Unigene cluster for KLHL40 Gene Hs.350288

mRNA Expression by UniProt/SwissProt for KLHL40 Gene

Q2TBA0-KLH40_HUMAN
Tissue specificity: Highly expressed in fetal (19, 23 and 31 weeks of gestation) and adult skeletal muscle; expression levels tend to be higher in fetal compared to postnatal muscles (at protein level). Aslo expressed in fetal and adult heart.
genes like me logo Genes that share expression patterns with KLHL40: view

Protein tissue co-expression partners for KLHL40 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for KLHL40 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KLHL40 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLHL40 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KBTBD5 36
  • 93 (a)
OneToOne
KBTBD5 35
  • 89.57 (n)
  • 93.51 (a)
dog
(Canis familiaris)
Mammalia KLHL40 35
  • 89.1 (n)
  • 92.11 (a)
KLHL40 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klhl40 35
  • 86.75 (n)
  • 92.73 (a)
Klhl40 16
Klhl40 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KLHL40 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLHL40 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klhl40 35
  • 86.06 (n)
  • 91.56 (a)
chicken
(Gallus gallus)
Aves KBTBD5 35
  • 70.77 (n)
  • 71.8 (a)
KLHL40 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 63 (a)
OneToMany
-- 36
  • 65 (a)
OneToMany
-- 36
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia klhl40 35
  • 66.72 (n)
  • 68.14 (a)
zebrafish
(Danio rerio)
Actinopterygii klhl40a 36
  • 58 (a)
OneToMany
klhl40b 36
  • 57 (a)
OneToMany
klhl40a 35
  • 61.89 (n)
  • 59.31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 22 (a)
OneToMany
Species with no ortholog for KLHL40:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KLHL40 Gene

ENSEMBL:
Gene Tree for KLHL40 (if available)
TreeFam:
Gene Tree for KLHL40 (if available)

Paralogs for KLHL40 Gene

Paralogs for KLHL40 Gene

(3) SIMAP similar genes for KLHL40 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KLHL40: view

Variants for KLHL40 Gene

Sequence variations from dbSNP and Humsavar for KLHL40 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs6805421 - 42,686,652(+) CTCCA(A/G)CCAGG reference, missense
rs123509 - 42,691,976(-) CAGGC(A/G)CAGCA reference, missense
VAR_069836 Nemaline myopathy 8 (NEM8)
VAR_069837 Nemaline myopathy 8 (NEM8)
VAR_069838 Nemaline myopathy 8 (NEM8)

Variation tolerance for KLHL40 Gene

Residual Variation Intolerance Score: 69.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.44; 54.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLHL40 Gene

HapMap Linkage Disequilibrium report
KLHL40
Human Gene Mutation Database (HGMD)
KLHL40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KLHL40 Gene

Disorders for KLHL40 Gene

MalaCards: The human disease database

(8) MalaCards diseases for KLHL40 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nemaline myopathy 8, autosomal recessive
  • nemaline myopathy 8
klhl40-related nemaline myopathy
  • nem8, nemaline myopathy 8
nemaline myopathy
  • nemaline body disease
myopathy
  • muscular diseases
severe congenital nemaline myopathy
  • severe congenital nm
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

KLH40_HUMAN
  • Nemaline myopathy 8 (NEM8) [MIM:615348]: A severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM8 is characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils. {ECO:0000269 PubMed:23746549}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KLHL40

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLHL40
genes like me logo Genes that share disorders with KLHL40: view

No data available for Genatlas for KLHL40 Gene

Publications for KLHL40 Gene

  1. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. (PMID: 23746549) Ravenscroft G. … Laing N.G. (Am. J. Hum. Genet. 2013) 2 3 4 67
  2. Interaction of amyotrophic lateral sclerosis/frontotemporal lobar degeneration-associated fused-in-sarcoma with proteins involved in metabolic and protein degradation pathways. (PMID: 25192599) Wang T. … Xu J. (Neurobiol. Aging 2015) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. (PMID: 24960163) Garg A. … Olson E.N. (J. Clin. Invest. 2014) 3
  5. Update on the Kelch-like (KLHL) gene family. (PMID: 23676014) Dhanoa B.S. … Friedman J.S. (Hum. Genomics 2013) 3

Products for KLHL40 Gene

Sources for KLHL40 Gene

Back to Top

Content